Variant report

Variant	esv3489693
Chromosome Location	chr3:47489973-47494471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47490125..47492275-chr3:47492500..47495080,2	K562	blood:
2	chr3:47490582..47492929-chr3:47496391..47498138,2	MCF-7	breast:
3	chr3:47490125..47492275-chr3:47492500..47495080,2	K562	blood:
4	chr3:47490214..47492275-chr3:47492500..47494353,2	K562	blood:
5	chr3:47490214..47492275-chr3:47492500..47494353,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111414660	chr3:47489974-47489975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59527052	chr3:47489980-47489981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554191132	chr3:47489987-47489988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572498526	chr3:47489993-47489994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370924458	chr3:47490007-47490008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73079289	chr3:47490049-47490050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563234429	chr3:47490066-47490067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189047938	chr3:47490156-47490157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573713819	chr3:47490209-47490210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371905128	chr3:47490214-47490215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145456175	chr3:47490215-47490216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201900900	chr3:47490218-47490219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199867325	chr3:47490219-47490220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181139159	chr3:47490323-47490324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186722537	chr3:47490421-47490422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150019606	chr3:47490450-47490451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144277102	chr3:47490451-47490452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9683177	chr3:47490493-47490494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs527328748	chr3:47490578-47490579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549402764	chr3:47490611-47490612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375979759	chr3:47490668-47490669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561637744	chr3:47490672-47490673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531767652	chr3:47490673-47490674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533548698	chr3:47490687-47490688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148724099	chr3:47490689-47490690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7615610	chr3:47490712-47490713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532628359	chr3:47490732-47490733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375750126	chr3:47490837-47490838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547955801	chr3:47490983-47490984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565923370	chr3:47491025-47491026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79382394	chr3:47491086-47491087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555326910	chr3:47491112-47491113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367964689	chr3:47491153-47491154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114849033	chr3:47491187-47491188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78157886	chr3:47491301-47491302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146882666	chr3:47491485-47491486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548815915	chr3:47491511-47491512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190764004	chr3:47491548-47491549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182608214	chr3:47491557-47491558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185983388	chr3:47491573-47491574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192137707	chr3:47491584-47491585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183456922	chr3:47491633-47491634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372969610	chr3:47491636-47491637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201996918	chr3:47491778-47491779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553492982	chr3:47491804-47491805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187455046	chr3:47491809-47491810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542613649	chr3:47491923-47491924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561396694	chr3:47491945-47491946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532049523	chr3:47491947-47491948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192303742	chr3:47491955-47491956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47476600-47514200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47481400-47496000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:47481400-47500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47481800-47492600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:47484000-47507800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:47484000-47511200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47484200-47511200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:47484400-47492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:47484400-47497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:47484600-47490000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:47484600-47494200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:47484600-47497400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:47484600-47500600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:47484600-47514000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:47484600-47514200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:47484600-47514200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:47484600-47514200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:47484600-47514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:47484800-47504400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:47484800-47504600	Weak transcription	Primary T cells from cord blood	blood
21	chr3:47484800-47514800	Weak transcription	Thymus	Thymus
22	chr3:47485000-47514800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:47485200-47502600	Weak transcription	K562	blood
24	chr3:47485400-47490800	Weak transcription	Fetal Lung	lung
25	chr3:47485400-47493000	Weak transcription	Spleen	Spleen
26	chr3:47485400-47494200	Weak transcription	Ovary	ovary
27	chr3:47485400-47503200	Weak transcription	Gastric	stomach
28	chr3:47485600-47493200	Weak transcription	Esophagus	oesophagus
29	chr3:47485600-47494000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:47485800-47493600	Weak transcription	Fetal Heart	heart
31	chr3:47486000-47490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:47486000-47492200	Weak transcription	Psoas Muscle	Psoas
33	chr3:47486000-47494200	Weak transcription	Left Ventricle	heart
34	chr3:47486000-47497200	Weak transcription	A549	lung
35	chr3:47486000-47497400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:47486000-47500200	Weak transcription	Fetal Intestine Large	intestine
37	chr3:47486000-47500400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:47486000-47504600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:47486000-47516000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:47486000-47516000	Weak transcription	Small Intestine	intestine
41	chr3:47486000-47516000	Weak transcription	HSMM	muscle
42	chr3:47486200-47497200	Weak transcription	Hela-S3	cervix
43	chr3:47486200-47502600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:47486200-47506000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:47486200-47516000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:47486600-47494400	Weak transcription	HepG2	liver
47	chr3:47486600-47500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:47487000-47502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:47487400-47497600	Weak transcription	Liver	Liver
50	chr3:47489000-47494000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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